Table 2 Summary statistics for variants in sequenced exomes of 49,960 UKB participants

From: Exome sequencing and characterization of 49,960 individuals in the UK Biobank

 

Autosomal variants in WES

Median autosomal variants per participant (IQR)

Variants

Variants with MAF < 1%

Variants

Variants with MAF < 1%

Total

10,189,098

10,037,865

49,477 (739)

1,695 (176)

Targeted regionsa

4,752,777

4,682,580

24,339 (285)

783 (63)

Variant typea

SNVs

4,540,330

4,473,417

23,541 (276)

741 (61)

Indels

212,447

209,163

797 (29)

43 (10)

Multi-allelic

604,728

593,926

3,410 (64)

120 (18)

Predicted function

Synonymous

1,224,107

1,197,941

9,584 (128)

227 (27)

Missense

2,492,667

2,466,331

8,702 (136)

379 (39)

LOF (any transcript)

198,269

197,574

175 (14)

20 (7)

LOF (all transcripts)

132,336

131,942

95 (11)

13 (5)

LOF (LOFTEE)

169,881

169,406

120 (12)

16 (7)

  1. Counts of autosomal variants observed across all individuals by type or functional class for all and for variants with MAF < 1%. The number of targeted bases by the exome-capture design was n = 38,997,831. All variants passed the quality-control criteria (see Supplementary Methods), individual and variant missingness <10% and Hardy–Weinberg P > 10−15. The median count and IQR per individual for all variants and for variants with MAF < 1% are shown.
  2. aCounts are restricted to WES-targeted regions.
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